BOR2
MCID: BRN086
MIFTS: 32
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Branchiootorenal Syndrome 2 (BOR2)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Branchiootorenal Syndrome 2:
Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Nephrological diseases Ear diseases |
UniProtKB/Swiss-Prot :
73
Branchiootorenal syndrome 2: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.
MalaCards based summary : Branchiootorenal Syndrome 2, also known as bor2, is related to branchiootorenal spectrum disorder and papillorenal syndrome. An important gene associated with Branchiootorenal Syndrome 2 is SIX5 (SIX Homeobox 5). Affiliated tissues include skin, and related phenotypes are hearing impairment and renal insufficiency Disease Ontology : 12 A branchiootorenal syndrome that has material basis in heterozygous mutation in SIX5 on chromosome 19q13.32.
More information from OMIM:
610896
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Diseases in the Branchiootorenal Syndrome family:
Diseases related to Branchiootorenal Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:(show all 11)
Graphical network of the top 20 diseases related to Branchiootorenal Syndrome 2:![]() |
Human phenotypes related to Branchiootorenal Syndrome 2:31
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MalaCards organs/tissues related to Branchiootorenal Syndrome 2:40
Skin
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Articles related to Branchiootorenal Syndrome 2:
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ClinVar genetic disease variations for Branchiootorenal Syndrome 2:6
UniProtKB/Swiss-Prot genetic disease variations for Branchiootorenal Syndrome 2:73
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Search
GEO
for disease gene expression data for Branchiootorenal Syndrome 2.
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Cellular components related to Branchiootorenal Syndrome 2 according to GeneCards Suite gene sharing:
Biological processes related to Branchiootorenal Syndrome 2 according to GeneCards Suite gene sharing:(show all 12)
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